Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
18 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 100408107 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 5 | 162093956 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.120 | 8 | 132175457 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
9 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.080 | 6 | 52452799 | missense variant | T/C | snv | 3.5E-03 | 2.4E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.925 | 0.080 | 3 | 192335441 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 2 | 219574380 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 2 | 165388746 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.080 | 1 | 1787378 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
35 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 0.700 | 0 |